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USMLE case: surgery or medicine
Paediatric Case: Your Diagnosis 1
Diagnosis?
Medical Case Report 5 : with answer
CASE REPORT
A 28-year-old man with no significant previous medical history came to the emergency department with a complaint of mild sore throat that had persisted for three days, accompanied by arthralgia, myalgia, and low-grade fever. The day before, he had had a severe headache with neck stiffness, nausea, and vomiting. he claimed not to have a cough, shortness of breath, abdominal pain, diarrhea, or urinary tract symptoms. he had no history of tick exposure or skin rash, was not taking any medications, had no known drug allergies, and did not smoke. he lived with his wife and two children, all of whom were well.
On physical examination, he was thin, alert, and oriented but had an inappropriate affect. His temperature was 98.6°F; pulse, 100; respirations, 20; and blood pressure, 110/70 mm Hg. His neck was stiff, but Kernig and Brudzinski signs were not present. The pharynx was slightly injected but without exudate. Findings on heart and lung examination were normal. No rash was present. The neurologic examination revealed intact cranial nerves, normal reflexes, and no sensory or motor deficits. His white blood cell count was 21,800/mm3 with 67% polymorphonuclear leukocytes and 26% band cells. Platelet count was 200,000/mm3. Electrolyte levels were within normal range, and the glucose level was 131 mg/dL. A chest film showed no signs of pneumonia. A lumbar puncture revealed clear cerebrospinal fluid (CSF) with a glucose level of 88 mg/dL and a total protein level of 33 mg/dL and no cells.
The patient underwent intravenous hydration after he was admitted with a diagnosis of meningismus, accompanied by the instruction to "rule out early viral meningitis versus viral syndrome." Approximately 12 hours later, he became acutely lethargic and a second spinal tap was performed. The CSF appeared cloudy and now contained 871 white blood cells, of which 93% were polymorphonuclear leukocytes; the glucose level was 1 mg/dL; the total protein level, 417 mg/dL. Gram stain revealed rare gram-negative diplococci, the latex agglutination test for bacterial antigens was positive for Neisseria meningitidis, and both the original and repeated CSF cultures grew N. meningitidis.
Mx
The patient was given high-dose intravenous penicillin G, 24 million units a day, and was transferred to the medical intensive care unit for observation. Despite the 12-hour delay in diagnosis, he recovered completely. Intimate household contacts received prophylactic rifampin, and the patient was given rifampin before discharge to eliminate nasopharyngeal carriage of Neisseria.
Porphyria: A Fact about Vampires?
Porphyria - the true story about Vampire
Legend tells us that vampires come out at night. They are night creatures because the sun can hurt and even kill them. They come out at night to seek fresh blood because without it they will suffer agonizing pain and will die. Their bodies dry up due to lack of blood, and new blood refreshes their bodies and gives them energy and certain powers.
It has been long believed that the condition associated with vampire legends is porphyria. Vampire characteristics are similar to those of porphyrics and this may have led to the misconception in the early 1400-1600's that porphyria sufferers were vampires. Vampire legends are in every country and porphyria is also found throughout the world. Porphyria comes from the Greek word meaning purple.
Of course, we now know that porphyria patients are NOT vampires, but porphyria might have contributed to the origin of the vampire legends.
EXPLAINING PORPHYRIA
Porphyria is a group of disorders caused by the abnormal production of heme which is the base material responsible for making hemoglobin and chlorophyll. Most types of porphyria are inherited. A child needs to inherit the defective gene from only one parent to develop the disease.
Heme is a substance found in all body tissues. The largest amounts of heme are found in the blood and bone marrow, and heme is also found in the liver and red blood cells. Multiple enzymes are required for the body to convert chemical compounds called porphyrins into heme. If any of the enzymes are abnormal, the process is disturbed and cannot continue. This allows the porphyrins to build up in the body.
Excessive porphyrin in the body causes photosensitivity which is oversensitivity to sunlight. When porphyrins are exposed to light and oxygen, they generate a charged, unstable form of oxygen that can damage the skin. Nerve damage, pain and paralysis can occur in some porphyrias. Sometimes an attack is so severe it can also lead to respiratory paralysis and the patient is unable to speak, breath or swallow. At times, this if fatal.
ABOUT:
Congenital Erythropoietic Porphyria - Hypersensitivity to Light
Fewer than 200 cases of congenital erythropoietic porphyria have ever been documented, and not just because physicians can’t pronounce the name. Due to a gene mutation, the skin becomes extremely sensitive to sunlight. Areas of exposed skin can become blistered and infected. Sunlight exposure can also lead to scarring, changes in skin pigmentation and increased hair growth. Such symptoms have unfairly linked people suffering from the condition with the lore of vampires and werewolves. On overcast or very cold winter days, the symptoms of congenital erythropoietic porphyria (also called erythropoietic protoporphyria) are sometimes attenuated, allowing some safe exposure to indirect sunlight.
Synesthesia is not considered to be a disease (though it has not been well studied, either) and tends to affect people who are bright and colorful—er, that is, people who are intelligent and creative
Past Medical History: Significant for tetralogy of Fallot (TOF) status/post repair at age 10; prior left Blalock-Taussig shunt at age 2
Physical FindingsAge: 49 Gender: Female Blood Pressure: 150/70 mm Hg Pulse: 75 bpm Head and Neck: Jugular venous pressure estimated at 10 mm Hg with a prominent V wave Chest and Lungs: Clear to auscultation bilaterally Cardiac Exam: Left parasternal heave; second heart sound was single; 3/6 holosystolic murmur at the left lower sternal border and a diastolic murmur 3/4 over the left upper sternal border Abdomen: Soft; no hepatosplenomegaly Extremities: Absent left radial pulse; no cyanosis or clubbing of the digits Additional Info: ECG revealed normal sinus rhythm with right bundle branch block. QRS duration: 140 ms
Options
A. Aortic insufficiency (AI) with a dilated aortic root.
B. Residual ventricular septal defect (VSD) with enlarged right ventricle (RV).
C. RV dysfunction due to severe pulmonary insufficiency and chronic volume overload of the RV.
D. Residual VSD with enlarged RV, and overriding aorta, and AI.
CASE IV
A 35-year-old man presented with with elevated blood pressure (188/112, seated) at a yearly physical exam. Previous exams noted blood pressures of 160/94 and 158/92. On questioning, he admitted episodes about twice a month of apprehension, severe headache, perspiration, rapid heartbeat, and facial pallor. These episodes had an abrupt onset and lasted 10-15 minutes.
Physical Exam
30 min after the initial blood pressure measurement, the seated blood pressure was 178/110 with a heart rate of 90. The blood pressure after 3 min of standing was 152/94 with a heart rate of 112. The optic fundi showed moderately narrowed arterioles with no hemorrhages or exudates.
Initial lab studiesRoutine hematology and chemistry studies were within the reference ranges and a chest film and EKG were essentially normal.
Questions
How would you assess this patient's presentation?
CASE III
Case II
Hint( a genetic cause of short stature)